Neuronal Ceroid-Lipofuscinoses
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses
... In summary, endolysosomal and autophagic dysfunction underlie most of the LSDs and neurodegeneration is a dev- astating manifestation in most of these diseases. Neuronal ceroid lipofuscinoses are the ...
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Longitudinal in vivo monitoring of the neuropathology in ovine neuronal ceroid lipofuscinoses
... or neuronal ceroid lipofuscinoses (NCLs) is one of the most common reasons for childhood dementia, characterized by brain atrophy, blindness, mental decline and premature ...
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Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses
... The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are a group of fatal neurodegenerative lysosomal storage diseases of children caused by various mutations in a range of ...
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Longitudinal studies and the development of gene therapy for ovine neuronal ceroid lipofuscinoses
... and neuronal loss seen in the occipital (visual) cortex of the CLN6 affected sheep from 6 months, well before the onset of visual deficits at 10 - 14 months of age (Oswald et ...
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Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
... Deficiency of lysosomal enzymes PPT1 in CLN1 or TPP1 in CLN2 results in lysosomal accumulation of lipids and subsequently the enlargement of lysosomes in patient cells [5, 6]. Enzyme replacement therapy (ERT) is ...
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Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis
... The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably ...where neuronal loss is most ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... Neuronal ceroid lipofuscinoses (NCLs) are inherited, progressive, neurodegenerative, lyso- somal storage diseases. Adult-onset NCLs (ANCLs), also known as Kufs disease (KD), are rare and challenging ...
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The molecular genetics of Turkish variant late infantile neuronal ceroid lipofuscinosis (LINCL)
... The neuronal ceroid lipofuscinoses (NCL: also known as Batten disease) are a group o f childhood neurodegenerative ...with neuronal accumulation o f ceroid-lipofuscin- like lipopigments ...
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Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons
... The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation ...
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Cysteine string protein (CSP) and its role in preventing neurodegeneration
... the neuronal ceroid lipofuscinoses, which is a large genetically heterogeneous class of neurodegenerative disorders defined by these two essential features [86, ...
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Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
... The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births ...or ceroid in the lysosome, progressive ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... Neuronal ceroid lipofuscinoses (NCLs) are inherited, progressive, neurodegenerative, lyso- somal storage diseases. Adult-onset NCLs (ANCLs), also known as Kufs disease (KD), are rare and challenging ...
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Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography
... The neuronal ceroid lipofuscinoses constitute a group of fatal inherited lysosomal storage diseases that manifest in profound neurodegeneration in the ...and ceroid lipofuscinosis ...
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Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder
... understood. Neuronal ceroid lipofuscinoses (NCLs), caused by mutations in CLN genes, are fatal childhood neurodegenerative lysosomal storage diseases without a ...
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Novel in frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
... NCLs: Neuronal ceroid lipofuscinoses; EEG: Electroencephalogram; FRAXE: Fragile XE syndrome; GC- MS: Gas chromatography – mass spectrometry; INCL: Infantile neuronal ceroid ...
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Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression
... The neuronal ceroid lipofuscinoses (NCLs; or Batten disease) are a group of fatal inherited human neurode- generative diseases affecting about 1:12,500 live births worldwide ...
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MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
... In NCL, continuing neuronal death leads to pro- gressive axonal (wallerian) degeneration and gliosis (10, 11). These alterations may explain the decreased signal of gray matter as well as the hyperintense signal ...
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Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis
... (Huber, manuscript in preparation). The mRNA expres- sion profile of ctsD indicates that the protein functions primarily during growth, where its expression in the high- est [31] (Fig. 2d). ctsD expression decreases ...
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Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation
... and neuronal ceroid lipofuscinosis (NCL) in the rare case of homozygous-null mutations ...reveals neuronal cell loss primarily affecting the frontal and temporal lobes of the brain, in- creased ...
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Biochemical studies on animal models of ceroid lipofuscinoses : a thesis presented in partial fulfilment of the requirements for the degree of Doctor in Philosophy in Veterinary Pathology, Massey University
... Autofluorescence in the yellow-orange region (520-540 nm) is another characteristic feature of stored lipopigment. To date neither the nature of t h e flourophor nor its sig nificance , if any, has been det e rmi ned. A ...
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